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. 2003 Jun 3;73(1):174–187. doi: 10.1086/376609

Table 4.

Mutations Identified in Individuals with Kindler Syndrome[Note]

Geographic Origin (No. of Patients) Nucleotide Change Predicted Consequencea Exon
Jordan (2) C193T Q65X 3
Italy (1) 373delT I124fs 3
Pakistan (1) G614A W205X 5
Panama (26) C811T R271X 6
United States (2) C811T R271X 6
Oman (2) C811T R271X 6
Britain (1) C862T R288X 7
Turkey (1) C862T R288X 7
Japan (2) 1089delG or IVS8+1delG (splice donor) L363fs or IVS8+1delG (splice donor) 8

Note.— Nucleotide positions correspond to the KIND1 coding sequence as deposited in GenBank (accession number AY137240, submitted July 2002). del = Deletion; fs = frameshift.

a

Either a frameshift or a splice-donor mutation.